Found 1089 records. Show 1 to 25. - Show all - Next
Gene list
Symbol Locus Link/Entrez Gene Name Disease Chromosome N of CSTs
  Cirrhosis, familial - Cirrhosis, familial, with pulmonary hypertension - Cirrhosis, noncryptogenic, susceptibility to 12 21
  Ehlers-Danlos syndrome, type I - Ehlers-Danlos syndrome, type II 9 89
  Hemophilia, classic; hema X 33
A2M Emphysema due to alpha-2-macroglobulin deficiency 12 30
AAAS Achalasia-addisonianism-alacrimia syndrome 12 60
AASS Hyperlysinemia - Saccharopinuria 7 54
ABAT Gaba-transaminase deficiency 16 38
ABCA1 Tangier disease, HDL deficiency, familial 9 190
ABCA12 Ichthyosis, lamellar, 2; li2 2 232
ABCA4 Stargardt disease-1 - Retinitis pigmentosa-19 1 112
ABCB1 Colchicine resistance 7 133
ABCB11 Progressive intrahepatic cholestasis-2 2 63
ABCB4 Cholestasis, progressive familial intrahepatic, type III 7 73
ABCB7 Anemia, sideroblastic, with ataxia X 93
ABCC2 Dubin-Johnson syndrome 10 40
ABCC6 Pseudoxanthoma elasticum, autosomal recessive 16 35
ABCC8 Persistent hyperinsulinemic hypoglycemia of infancy 11 71
ABCC9 Cardiomyopathy, dilated, with ventricular tachycardia 12 67
ABCD1 Adrenoleukodystrophy - Adrenomyeloneuropathy X 26
ABCD3 Zellweger syndrome-2 1 110
ABCG5 Sitosterolemia 2 40
ABCG8 Sitosterolemia 2 35
ABHD5 Triglyceride storage disease with impaired long-chain fatty acid oxidation 3 70
ABL1 Leukemia, chronic myeloid 9 53
ACACA Acetyl-coA carboxylase deficiency 17 216